Just Curious Anyone Have the Genetic Spit Test Done with New Pregnancy.......

Updated on January 18, 2012
C.R. asks from Pinecrest, CA
6 answers

So with this pregnancy there are so many more testing options for genetic testing that I feel slightly overwhelmed. With my 2nd I passed on everything except the usual blood test done at 16 weeks and the 20 week ultrasound, simply because it would be just for informational purposes my husband and I wouldn't terminate a pregnancy based on tests.

this time around I haven't felt my best, I'm older officially in my 30's, so why not get an extra ultrasound and do some spit test. Yikes, had an appointment today and looks like the spit test came back positive for me being a carrier for a pretty common genetic disorder that really isn't that big of a deal except with anesthesia. But the second one is called Glycosylation Type Ia and it is a pretty big deal--outlook for babies don't look good at all. Now I'm being referred out to a genetic counselor and which would probably lead to have the hubby tested etc., but I'm just wondering whether its worth it or not?

Ironically, I'm not that worried, probably because we have no family history of problems and I have two perfectly healthy boys, but I'm just curious how many others have gone through this process only to find out everything is perfectly fine? Or did you find out something that helped prepare you on what to expect when you had your knew baby?

My dr. said this is so new for them too that she is really unsure on how far to take things--hence the referral to the genetic counselor, but she said its no wonder the miscarriage rates are as high as they are. She was dumbfounded with how many abnormality results she seeing. She herself had 5 miscarriages and so wants to take the test herself. I'm so amazed by technology but also wonder whether this was information I rather have not known? thoughts and any other stories willing to share I'm definitely interested in hearing.........

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answers from Sacramento on

I had my both kids after 35 and did the genetic tests done for both. I think it all comes down to how much you want to know and what are you going to do with the info. I would terminate the pregnancy if I had found something really bad going on.It seems its not the case with you , so why go through all the pain and anxiety and ruin a happy pregnancy, plus all the costs involved.To me this information will not help you in any way to care for your baby after birth .Thank god my both boys are born healthy . I wish the same for your baby.Best of luck.

1 mom found this helpful


answers from Chicago on

I was well into my 30's having my first, second, third.....I did not have any of those tests and did initial blood, and ultrasound....Like you I wouldn't do anything different. Why worry about taking these extra steps for yourself if you don't need to and like you said the end result on choice would be no different. Unless they find a problem that needs further investigation, I would opt not to do it.



answers from Santa Barbara on

I can pretty much bet this is a test done by a laboratory that does "100 genetic tests for $350"! I admire you for getting prenatal genetic testing but your doctor and genetic counselor need to grill and I mean scientific proof that what they have is based in fact and has a very high rate of accuracy (it doesn't and they won't have it). So many abnormal tests, this should not be the case. Doctors have gotten suckered into this because it is cheap and they have been bullied into "more is better" without the science behind it. Your doctor wants to send you to a genetic counselor because she doesn't know what to do with you. This company, and I know who it is, will not have the science to back it up...please please push for the science!! I would absolutely have had testing for cystic fibrosis, Fragile X and spinal muscular atrophy. Most physicians will offer CF, it has a 1:40 carrier rate and if both parents are carriers there is a 1:4 chance the baby will have CF.



answers from Redding on

I have to agree that most these tests are a money game and just over the top. I also like the comments about the high miscarraige rates due to stress about these things!

However to play devils advocate...I think the tests are important at times as well. For me, I live in a very small town with a decent hospitol. But my doctors like to test because if baby did come back showing a major issue...we need to be prepared. Locally they may not be prepared to care for a special needs baby and may want to send me to SF or somewhere more prepared with NICU's etc for delivery. So for that reason I did the tests. But I have never heard of the spit test...I am 9 months preggo right now : - ) Good luck!



answers from Topeka on

I'm at 15 weeks & have not heard of the spit test genetic testing,I do hoa\wever do early sonograms & the quad screening before 20 weeks so right around the turn of 19 weeks,I was offered the cystic fibroysis but denied it I have 3 kids already same father & I don't believe to be a carrier nor him.But now you have me curious so I will ask about this at my next appt.,you mentioned your in the 30's so maybe there is a higher risk for what they are testing for due to your age,also the age of your husband.I do the testing just because it is offered & why not I rather be educated first before meeting my newborn it isn't 100% accurate but there is also no family history but I still choose to do it.Hope you get all the info you can get since you are being referred to a genetic counselor.All I would do is take a deep breath & go for it your pregnant,the information will benefit you & unborn baby.



answers from New York on

Good for you and for your doctor to pursue genetic testing. I wish my doctor did that for us. We have no family history of anything, we also have a healthy 4 year old son. I now also have a beautiful 11 month old daughter who 6 weeks after she was born we were BLINDSIDED to learn she has the number one genetic killer of babies, a neuromuscular disease called Spinal Muscular Atrophy. She has type 1, which is the most common and deadliest form. Typically babies die before their 2 nd birthday. I had never heard of it, let alone known that me and my husband were carriers of it! Demand genetic testing, I wish I knew to do so.

age has nothing to do with genetic testing for awful diseases like SMA, CF DMD whatever. the only thing that may remotely be due to age is downs

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